Linked Data
dbSNP Id:
rs11287174
gnomAD v2:
19-694649-CT-C
gnomAD v3:
19-694649-CT-C
gnomAD v4:
19-694649-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694650del , CM000681.2:g.694650del | GRCh38 |
| NC_000019.9:g.694650del , CM000681.1:g.694650del | GRCh37 |
| NC_000019.8:g.645650del | NCBI36 |
| NG_051189.1:g.5882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.233+164del MANE Select | ENSP00000327386.6:n.233+164del | |
| ENST00000329267.8:c.233+164del | ENSP00000327386.6:n.233+164del | |
| ENST00000613411.4:c.236+164del | ENSP00000482358.1:n.236+164del | |
| NM_001308209.1:c.233+164del | NP_001295138.1:n.233+164del | |
| NM_214710.3:c.236+164del | NP_999875.1:n.236+164del | |
| NM_214710.4:c.236+164del | NP_999875.1:n.236+164del | |
| NM_001308209.2:c.233+164del MANE Select | NP_001295138.2:n.233+164del | |
| NM_214710.5:c.236+164del | NP_999875.2:n.236+164del |